Genetics of Skin Cancer (PDQ®)–Health Professional Version

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Changes to This Summary (10/19/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Basal Cell Carcinoma (BCC)

Added text to state that in women from the Nurses’ Health Study, there was an increased risk of BCC in women with red hair relative to those with light brown hair; but in men from the Health Professionals Follow-Up Study, the risk of BCC associated with red hair was lower and was not significant after adjustment for melanoma family history and sunburn history. Added that risk associated with blond hair was also increased for both men and women, and dark brown hair was protective against BCC.

Added text to state that data from the Nurses’ Health Study and the Health Professionals Follow-Up Study indicate that family history of melanoma in a first-degree relative (FDR) is associated with an increased risk of BCC in both men and women. Added that a study of 376 early-onset BCC cases and 383 controls found that a family history of any type of skin cancer increased the risk of early-onset BCC; this risk increased when an FDR was diagnosed with skin cancer before age 50 years, and individuals who had a family history of both melanoma and nonmelanoma skin cancer had the highest risk (cited Berlin et al. as reference 4).

Squamous Cell Carcinoma

Table 5, Hereditary Syndromes Associated with Squamous Cell Carcinoma of the Skin, was reorganized and expanded to include text about Huriez syndrome and oculocutaneous albinism.

Added text to state that a study of more than 1,000 individuals of Ashkenazi Jewish ancestry identified a founder RTEL1 splice-site pathogenic variant, c.3791G>A (p.R1264H), that had a carrier frequency of 1% in Orthodox Ashkenazi Jewish individuals and 0.45% in the general Ashkenazi Jewish population (cited Fedick as reference 169).

Melanoma

Added text to state that sun exposure is well established as a major etiologic factor in all forms of skin cancer, although its effects differ by cancer type.

Added text to state that dark-skinned ethnic groups have a very low risk of melanoma on pigmented skin surfaces; however, individuals in these groups develop melanoma on less-pigmented acral surfaces at the same frequency as light-skinned individuals.

Added text to state that nevi are sharply circumscribed benign pigmented lesions of the skin or mucosa composed of nest melanocytes.

Added text to state that a study of more than 1,000 individuals in Spain showed that 6.6% of individuals with melanoma have a family history of two or more FDRs with melanoma, and up to 15% have a family history suggestive of familial melanoma that includes melanoma or pancreatic cancer diagnoses in FDRs or second-degree relatives (cited Márquez-Rodas et al. as reference 37). Added text to state that a study of 587 individuals with single or multiple primary melanoma (MPM) found CDKN2A pathogenic variants in 19% of individuals with MPM relative to 4.4% of individuals with a single primary melanoma (cited Bruno et al. as reference 40); CDKN2A pathogenic variants were found in 29.6% of individuals with three or more primary melanomas. Added that individuals with more than three primary melanomas and a family history of melanoma (undefined) had a frequency of CDKN2A pathogenic variants of 58.8%.

Added text to state that a patient with a balanced translocation between chromosomes 9 and 22 that disrupted p14ARF had melanoma, DNA repair deficiency, and features of DiGeorge syndrome, including deafness and malformed inner ears (cited Tan et al. as reference 59).

Added text to state that a family with a Y646X BAP1 pathogenic variant had multiple cancers, including multiple cutaneous melanomas and BCCs, uveal melanoma, and mesotheliomas (cited Cheung et al. as reference 103); the authors hypothesized that a gene-environment interaction between BAP1 pathogenic variants and ultraviolet radiation and asbestos exposure contributed to the high incidence of multiple cancers in this family.

Added text to state that a multicenter meta-analysis of 11 genome-wide association studies and two data sets that included 15,990 cutaneous melanoma cases and 26,409 controls reported five melanoma susceptibility loci that involved putative melanocyte regulatory elements, telomere biology, and DNA repair.

Added text to state that a study of 2,424 melanoma cases found that variants were associated with the occurrence of melanoma on the arms, rather than the trunk, head, or legs (cited Taylor et al. as reference 143).

Added Gumaste et al. as reference 161.

Added text to state that in an attempt to prevent skin cancer, more than 40 states have laws prohibiting tanning bed use by teenagers or requiring signed parental consent for teenagers who requested tanning bed use (cited National Conference of State Legislatures: Indoor Tanning Restrictions for Minors: A State-By-State Comparison as reference 185).

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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